Tay Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

Tay-Sachs Disease Pathophysiology

Tay-Sachs Disease Diagnosis

Tay-Sachs Disease Prevention

Tay-Sachs Disease Society and Culture

Tay-Sachs Disease Research

Tay-Sachs Disease Symptoms

Latest Tay Sachs Disease News and Research

Study underscores the need for more precise rare disease definitions

Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.

5 Feb 2020

New CRISPR genome “prime editing” system

Gene editing to correct genetic faults and removing the risk of hereditary diseases may soon become reality. Researchers have come up with a new gene editing technology that could help patients with sickle cell anaemia and up 89 percent of other genetic defects.

22 Oct 2019

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.

4 Oct 2019

New blood test detects genetic disorders in fetuses

Tel Aviv University researchers have developed a new blood test for genetic disorders that may allow parents to learn about the health of their baby as early as 11 weeks into pregnancy.

21 Feb 2019

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Since its clinical description in 1881, Tay-Sachs disease has had almost totemic significance as a cruel and relentless genetic condition that destroys the developing brain of babies and young children.

28 Apr 2018

Actress Kiruna Stamell argues about gene editing with Dr Christopher Gyngell

Two papers published today by the Journal of the Royal Society of Medicine, debate gene editing and the health of future generations.

29 Apr 2017

New gene therapy shows promising results for treating neurodegenerative disorders

A new gene therapy approach designed to replace the enzyme that is deficient in patients with the inherited neurodegenerative disorders Tay-Sachs and Sandhoff diseases successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold.

28 Jul 2016

Mutation that increases sphingolipid levels can lead to neurodegeneration

A mutation that increases the level of a special class of sphingolipids--molecules important to cell structure and signaling--can lead to neurodegeneration due to problems with neuronal membranes, reports a research team led by Jackson Laboratory Research Scientist Lihong Zhao, Ph.D. and Professor Patsy Nishina, Ph.D.

7 Oct 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

11 Mar 2014

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

Loyola University Health System (LUHS) now offers chorionic villus sampling (CVS), a highly accurate prenatal test for chromosomal abnormalities in the fetus. Loyola is one of the few centers in the Chicago area to offer CVS.

12 Nov 2013

Available drugs may have a dramatic impact on children stricken with Tay-Sachs disease

A team of researchers has made a significant discovery which may have a dramatic impact on children stricken with Tay-Sachs disease, a degenerative and fatal neurological condition that often strikes in the early months of life.

7 Jun 2013

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Counsyl has partnered with ARUP Laboratories, a nonprofit enterprise of the University of Utah, to expand its pre-pregnancy and early pregnancy genetic test offering for prospective parents. ARUP's molecular genetic testing laboratory already provides a comprehensive set of testing options for a broad range of inherited disorders.

28 Jan 2013

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

19 Jul 2012

New genetic testing technology for IVG embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

23 May 2011

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Miguel Sena-Esteves, PhD, associate professor of neurology at the University of Massachusetts Medical School, was presented with the annual "See the Light" award from the Mathew Forbes Romer Foundation in recognition of his work for leading the fight against children's genetic diseases of the brain.

12 Jan 2011

New stem cell gene, enzyme replacement treatment for Tay-Sachs disease

StemCellRegenMed, Inc. announces that a new stem cell gene and enzyme replacement treatment has been performed on a fourteen month old child with Tay-Sachs disease on November 2, 2010. Tay-Sachs is a devastating disease that afflicts children primarily of parents of Jewish heritage and in very rare cases families of Eastern European background and the Cajun region in the U.S.A.

10 Nov 2010

Quest Diagnostics' Fragile X Syndrome test receives New York State health department approval

An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism.

From Quest Diagnostics 29 Jul 2010

Creator of California Tay-Sachs Disease Prevention Program among the honorees

A mere 40 years ago, parents didn't know they were carriers of the Tay-Sachs disease until after they'd given birth to a child with this fatal genetic disorder.

7 May 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.